F210A_HUMAN
ID F210A_HUMAN Reviewed; 272 AA.
AC Q96ND0; D3DUJ4;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Protein FAM210A;
GN Name=FAM210A; Synonyms=C18orf19;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP INTERACTION WITH ATAD3A.
RX PubMed=22453275; DOI=10.1093/nar/gks266;
RA He J., Cooper H.M., Reyes A., Di Re M., Sembongi H., Litwin T.R., Gao J.,
RA Neuman K.C., Fearnley I.M., Spinazzola A., Walker J.E., Holt I.J.;
RT "Mitochondrial nucleoid interacting proteins support mitochondrial protein
RT synthesis.";
RL Nucleic Acids Res. 40:6109-6121(2012).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [7]
RP VARIANTS [LARGE SCALE ANALYSIS] HIS-82 AND GLU-140.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May play a role in the structure and strength of both muscle
CC and bone. {ECO:0000250|UniProtKB:Q8BGY7}.
CC -!- SUBUNIT: Interacts with ATAD3A. {ECO:0000269|PubMed:22453275}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255, ECO:0000305}; Single-pass
CC membrane protein {ECO:0000255}. Mitochondrion
CC {ECO:0000250|UniProtKB:Q8BGY7}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q8BGY7}.
CC -!- SIMILARITY: Belongs to the FAM210 family. {ECO:0000305}.
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DR EMBL; AK055618; BAB70973.1; -; mRNA.
DR EMBL; AP001010; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001525; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471113; EAX01508.1; -; Genomic_DNA.
DR EMBL; CH471113; EAX01509.1; -; Genomic_DNA.
DR CCDS; CCDS11866.1; -.
DR RefSeq; NP_001092271.1; NM_001098801.1.
DR RefSeq; NP_689565.2; NM_152352.3.
DR AlphaFoldDB; Q96ND0; -.
DR SMR; Q96ND0; -.
DR BioGRID; 125924; 62.
DR IntAct; Q96ND0; 6.
DR STRING; 9606.ENSP00000323635; -.
DR iPTMnet; Q96ND0; -.
DR PhosphoSitePlus; Q96ND0; -.
DR BioMuta; FAM210A; -.
DR DMDM; 296434465; -.
DR EPD; Q96ND0; -.
DR jPOST; Q96ND0; -.
DR MassIVE; Q96ND0; -.
DR MaxQB; Q96ND0; -.
DR PaxDb; Q96ND0; -.
DR PeptideAtlas; Q96ND0; -.
DR PRIDE; Q96ND0; -.
DR ProteomicsDB; 77502; -.
DR TopDownProteomics; Q96ND0; -.
DR Antibodypedia; 54115; 18 antibodies from 8 providers.
DR DNASU; 125228; -.
DR Ensembl; ENST00000322247.7; ENSP00000323635.3; ENSG00000177150.13.
DR Ensembl; ENST00000402563.5; ENSP00000386115.1; ENSG00000177150.13.
DR Ensembl; ENST00000651643.1; ENSP00000498370.1; ENSG00000177150.13.
DR GeneID; 125228; -.
DR KEGG; hsa:125228; -.
DR MANE-Select; ENST00000651643.1; ENSP00000498370.1; NM_152352.4; NP_689565.2.
DR UCSC; uc002ksj.5; human.
DR CTD; 125228; -.
DR DisGeNET; 125228; -.
DR GeneCards; FAM210A; -.
DR HGNC; HGNC:28346; FAM210A.
DR HPA; ENSG00000177150; Tissue enhanced (tongue).
DR MIM; 617975; gene.
DR neXtProt; NX_Q96ND0; -.
DR OpenTargets; ENSG00000177150; -.
DR PharmGKB; PA134993051; -.
DR VEuPathDB; HostDB:ENSG00000177150; -.
DR eggNOG; KOG4082; Eukaryota.
DR GeneTree; ENSGT00940000156554; -.
DR HOGENOM; CLU_085747_0_0_1; -.
DR InParanoid; Q96ND0; -.
DR OMA; MQWNVLR; -.
DR OrthoDB; 1568689at2759; -.
DR PhylomeDB; Q96ND0; -.
DR TreeFam; TF313283; -.
DR PathwayCommons; Q96ND0; -.
DR SignaLink; Q96ND0; -.
DR BioGRID-ORCS; 125228; 174 hits in 1092 CRISPR screens.
DR ChiTaRS; FAM210A; human.
DR GenomeRNAi; 125228; -.
DR Pharos; Q96ND0; Tdark.
DR PRO; PR:Q96ND0; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q96ND0; protein.
DR Bgee; ENSG00000177150; Expressed in left ventricle myocardium and 186 other tissues.
DR ExpressionAtlas; Q96ND0; baseline and differential.
DR Genevisible; Q96ND0; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005739; C:mitochondrion; ISS:UniProtKB.
DR InterPro; IPR045866; FAM210A/B-like.
DR InterPro; IPR009688; FAM210A/B-like_dom.
DR PANTHER; PTHR21377; PTHR21377; 1.
DR Pfam; PF06916; DUF1279; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Cytoplasm; Membrane; Mitochondrion; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..272
FT /note="Protein FAM210A"
FT /id="PRO_0000274424"
FT TRANSMEM 136..156
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 117..229
FT /note="DUF1279"
FT REGION 246..272
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 229..271
FT /evidence="ECO:0000255"
FT VARIANT 39
FT /note="Y -> N (in dbSNP:rs35493157)"
FT /id="VAR_056844"
FT VARIANT 82
FT /note="R -> H (in a breast cancer sample; somatic mutation;
FT dbSNP:rs116967198)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035686"
FT VARIANT 140
FT /note="V -> E (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035687"
FT VARIANT 167
FT /note="E -> K (in dbSNP:rs2847146)"
FT /id="VAR_060439"
FT CONFLICT 49
FT /note="Q -> R (in Ref. 1; BAB70973)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 272 AA; 30777 MW; 6053475E4CCF65C4 CRC64;
MQWNVPRTVS RLARRTCLEP HNAGLFGHCQ NVKGPLLLYN AESKVVLVQG PQKQWLHLSA
AQCVAKERRP LDAHPPQPGV LRHKQGKQHV SFRRVFSSSA TAQGTPEKKE EPDPLQDKSI
SLYQRFKKTF RQYGKVLIPV HLITSGVWFG TFYYAALKGV NVVPFLELIG LPDSVVSILK
NSQSGNALTA YALFKIATPA RYTVTLGGTS VTVKYLRSHG YMSTPPPVKE YLQDRMEETK
ELITEKMEET KDRLTEKLQE TKEKVSFKKK VE
